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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA376434281
Gene: MTPAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2019149
ClinVar RCV Id:
RCV002846885
dbSNP Id:
rs2132841462
gnomAD v4:
10-30313752-G-C
MyVariant Identifiers:
chr10:g.30602681G>C (hg19)
chr10:g.30313752G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.30313752G>C , CM000672.2:g.30313752G>C
GRCh38
NC_000010.10:g.30602681G>C , CM000672.1:g.30602681G>C
GRCh37
NC_000010.9:g.30642687G>C
NCBI36
NG_028096.1:g.40587C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000263063.9:c.1606C>G
MANE Select
ENSP00000263063.3:p.Pro536Ala
ENST00000263063.8:c.1606C>G
ENSP00000263063.3:p.Pro536Ala
ENST00000488290.5:n.3361C>G
NM_018109.3:c.1606C>G
NP_060579.3:p.Pro536Ala
NM_018109.4:c.1606C>G
MANE Select
NP_060579.3:p.Pro536Ala
Search 100 bp 5'
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